Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0456070
Disease: Growth delay
Growth delay 		244 0 1 4.1E-03 0 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		306 0 1 3.3E-03 0 0
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		312 0 1 3.2E-03 0 0
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		319 0 1 3.1E-03 0 0
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		420 0 1 2.4E-03 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 1 2.3E-03 0 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 0 1 2.2E-03 0 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 0 1 2.2E-03 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 0 1 2.1E-03 0 0
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		560 0 1 1.8E-03 0 0
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		820 0 1 1.2E-03 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 1 1.2E-03 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		868 0 1 1.2E-03 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 1 1.0E-03 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 0 1 5.5E-04 0 0
CUI: C0036572
Disease: Seizures
Seizures 		2152 0 1 4.6E-04 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 1 4.6E-04 0 0
CUI: C0017638
Disease: Glioma
Glioma 		3097 0 1 3.2E-04 0 0
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		3177 0 1 3.1E-04 0 0
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		3197 0 1 3.1E-04 0 0
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		3806 0 1 2.6E-04 0 0